Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1
Variant:p.S228L
Back to variants list

DNAAF1

NM_178452.6:p.S228L

Associated Papers

Changes in sputum viscoelastic properties and airway inflammation in primary ciliary dyskinesia are comparable to cystic fibrosis on elexacaftor/tezacaftor/ivacaftor therapy.

Nussstein H et al.

The European Respiratory Journal, 2026

40967762 (PubMed )
Supplement: ERJ-00616-2025.Supplement.pdf

Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.

Raidt J et al.

The European Respiratory Journal, 2024

38871375 (PubMed )
Supplement: ERJ-01769-2023.Table_E2.xlsx › AlleleFrequenciesgnomAD_22.03.2

Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.

Wheway G et al.

Bmc Medical Genomics, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."